Evidence for the multiple hits genetic theory for inherited language impairment: a case study

Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase su...

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Main Authors: Centanni, Tracy M., Green, Jordan R., Iuzzini-Seigel, Jenya, Bartlett, Christopher W., Hogan, Tiffany P.
Other Authors: McGovern Institute for Brain Research at MIT
Format: Article
Language:en_US
Published: Frontiers Research Foundation 2015
Online Access:http://hdl.handle.net/1721.1/99679
https://orcid.org/0000-0002-9889-334X
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author Centanni, Tracy M.
Green, Jordan R.
Iuzzini-Seigel, Jenya
Bartlett, Christopher W.
Hogan, Tiffany P.
author2 McGovern Institute for Brain Research at MIT
author_facet McGovern Institute for Brain Research at MIT
Centanni, Tracy M.
Green, Jordan R.
Iuzzini-Seigel, Jenya
Bartlett, Christopher W.
Hogan, Tiffany P.
author_sort Centanni, Tracy M.
collection MIT
description Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to these disorders in the presence of other pathogenic gene mutations. In the current study, we describe eight children with specific language impairment and four of these children had a copy number variant in one of these potential susceptibility regions on chromosome 15. Three of these four children also had variants in other genes previously associated with language impairment. Our data support the theory that 15q11.2 is a susceptibility region for developmental disorders, specifically language impairment.
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spelling mit-1721.1/996792022-10-02T04:51:58Z Evidence for the multiple hits genetic theory for inherited language impairment: a case study Centanni, Tracy M. Green, Jordan R. Iuzzini-Seigel, Jenya Bartlett, Christopher W. Hogan, Tiffany P. McGovern Institute for Brain Research at MIT Centanni, Tracy M. Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to these disorders in the presence of other pathogenic gene mutations. In the current study, we describe eight children with specific language impairment and four of these children had a copy number variant in one of these potential susceptibility regions on chromosome 15. Three of these four children also had variants in other genes previously associated with language impairment. Our data support the theory that 15q11.2 is a susceptibility region for developmental disorders, specifically language impairment. University of Nebraska. Health Research Consortium Barkley Memorial Trust 2015-11-03T17:15:44Z 2015-11-03T17:15:44Z 2015-08 2015-05 Article http://purl.org/eprint/type/JournalArticle 1664-8021 http://hdl.handle.net/1721.1/99679 Centanni, Tracy M., Jordan R. Green, Jenya Iuzzini-Seigel, Christopher W. Bartlett, and Tiffany P. Hogan. “Evidence for the Multiple Hits Genetic Theory for Inherited Language Impairment: a Case Study.” Frontiers in Genetics 6 (August 24, 2015). https://orcid.org/0000-0002-9889-334X en_US http://dx.doi.org/10.3389/fgene.2015.00272 Frontiers in Genetics Creative Commons Attribution http://creativecommons.org/licenses/by/4.0/ application/pdf Frontiers Research Foundation Frontiers Research Foundation
spellingShingle Centanni, Tracy M.
Green, Jordan R.
Iuzzini-Seigel, Jenya
Bartlett, Christopher W.
Hogan, Tiffany P.
Evidence for the multiple hits genetic theory for inherited language impairment: a case study
title Evidence for the multiple hits genetic theory for inherited language impairment: a case study
title_full Evidence for the multiple hits genetic theory for inherited language impairment: a case study
title_fullStr Evidence for the multiple hits genetic theory for inherited language impairment: a case study
title_full_unstemmed Evidence for the multiple hits genetic theory for inherited language impairment: a case study
title_short Evidence for the multiple hits genetic theory for inherited language impairment: a case study
title_sort evidence for the multiple hits genetic theory for inherited language impairment a case study
url http://hdl.handle.net/1721.1/99679
https://orcid.org/0000-0002-9889-334X
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